JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, cilt.35, sa.3, ss.417-420, 2022 (SCI-Expanded)
Objectives: Glycogen storage diseases (GSDs) are heterogeneous disorders caused by various enzyme deficiencies. GSD type IX alpha 2, the most common subtype of GSD IX, is due to a deficiency of hepatic phosphorylase kinase. Herein we will report a novel mutation in this disease with an unusual presentation.